TRIOBP gene

TRIO and F-actin binding protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

From UniProt:

May regulate actin cytoskeletal organization, cell spreading and cell contraction by directly binding and stabilizing filamentous F-actin. The localized formation of TARA and TRIO complexes coordinates the amount of F-actin present in stress fibers. May also serve as a linker protein to recruit proteins required for F-actin formation and turnover.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal recessive 28

From UniProt:

Deafness, autosomal recessive, 28 (DFNB28): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [MIM:609823]

Cytogenetic Location: 22q13.1, which is the long (q) arm of chromosome 22 at position 13.1

Molecular Location: base pairs 37,696,988 to 37,776,556 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.1, which is the long (q) arm of chromosome 22 at position 13.1
  • DFNB28
  • dJ37E16.4
  • HRIHFB2122
  • TAP68
  • TARA